M22R (p.Met22Arg) variant of STK11 (Q15831)
M22R (p.Met22Arg) in STK11 (Q15831) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Peutz-Jeghers syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
M22R (p.Met22Arg) variant details
- p.Met22Arg
- rs1599914854
- ClinGen CA402943423
- ClinVar RCV001025447
- ClinVar RCV005093262
- Uncertain significance
- Peutz-Jeghers syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- AlphaMissense 0.41
- MetaLR 0.46
- MetaSVM -0.31
- PolyPhen-2 0.60
- SIFT 0.02
- EVE 0.11
- ClinVar: Uncertain significance (Peutz-Jeghers syndrome; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)